Assessment of Retinal Changes Following Intravitreal Aflibercept in 2 Patients With Von Hippel-Lindau Disease-Related Retinal Capillary Hemangioblastoma.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2022.4425
Abstract: This case report of 2 patients describes peripheral Von Hippel-Lindau disease associated with a series of aflibercept injections. read more here.
Keywords: von hippel; hippel lindau; assessment retinal; lindau disease ... See more keywords
Management recommendations for pancreatic manifestations of von Hippel-Lindau disease.
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DOI: 10.1002/cncr.33978
Abstract: Von Hippel-Lindau disease (VHL) is a multineoplasm inherited disease manifesting with hemangioblastoma of the central nervous system and retina, adrenal pheochromocytoma, renal cell carcinoma, pancreatic neuroendocrine tumors and cysts, and neoplasms/cysts of the ear, broad… read more here.
Keywords: pancreatic manifestations; hippel lindau; lindau disease; von hippel ... See more keywords
Multidisciplinary integrated care pathway for von Hippel–Lindau disease
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DOI: 10.1002/cncr.34265
Abstract: Clinical pathways are care plans established to describe essential steps in the care of patients with a specific clinical problem. They translate (inter)national guidelines into local applicable protocols and clinical practice. The purpose of this… read more here.
Keywords: von hippel; integrated care; care pathway; hippel lindau ... See more keywords
Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease
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DOI: 10.1002/humu.24392
Abstract: Von Hippel‐Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and other organs. It is caused by pathogenic variants in the VHL tumor… read more here.
Keywords: von hippel; phenotype; hippel lindau; genotype phenotype ... See more keywords
Comprehensive characterization and building of National Registry of von Hippel–Lindau disease in Brazil
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DOI: 10.1002/mgg3.2136
Abstract: Von Hippel‐Lindau (VHL) disease is an autosomal dominant disorder caused by pathogenic variants in VHL gene. The common manifestations include hemangioblastomas (HB) of the central nervous system (CNS) and retina (RH); pheochromocytoma (PHEO); clear cell… read more here.
Keywords: comprehensive characterization; von hippel; hippel lindau; disease ... See more keywords
Clinical, surgical, pathological and follow-up features of kidney cancer patients with Von Hippel-Lindau syndrome: novel insights from a large consortium
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DOI: 10.1007/s00345-020-03574-5
Abstract: To investigate the natural history and follow-up after kidney tumor treatment of Von Hippel-Lindau (VHL) patients. A multi-institutional European consortium of patients with VHL syndrome included 96 non-metastatic patients treated at 9 urological departments (1987–2018).… read more here.
Keywords: consortium; hippel lindau; treatment; von hippel ... See more keywords
Hemangioblastoma and von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment
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DOI: 10.1007/s00381-020-04712-5
Abstract: Introduction Hemangioblastomas are rare, histologically benign, highly vascularized tumors of the brain, the spinal cord, and the retina, occurring sporadically or associated with the autosomal dominant inherited von Hippel-Lindau (VHL) disease. Children or adults with… read more here.
Keywords: vhl; hippel lindau; disease; von hippel ... See more keywords
Retinal capillary hemangioblastomatosis and renal tumor in Von Hippel-Lindau disease
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DOI: 10.1016/j.ajoc.2020.100718
Abstract: A 25 year-old man with no significant past medical history presented with 5 months of progressive vision loss in the right eye. Visual acuity was 20/400. Anterior segment exam was unremarkable. Fundoscopy (Fig. 1) and… read more here.
Keywords: hippel lindau; disease; retinal capillary; von hippel ... See more keywords
Maladie de Von Hippel Lindau révélé par un phéochromocytome : à propos d’un cas
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DOI: 10.1016/j.ando.2018.06.699
Abstract: Introduction La maladie de Von Hippel Lindau (VHL) est une affection rare, de transmission autosomique dominante, sa prevalence est estimee a 1/53 000, l’incidence annuelle a 1/36 000. Il s’agit d’une maladie hereditaire a l’origine de developpement… read more here.
Keywords: maladie; hippel lindau; maladie von; von hippel ... See more keywords
Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.
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DOI: 10.1016/j.ejmg.2018.07.006
Abstract: Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome in which carriers are at an increased risk of developing a variety of tumors in multiple organ systems. A clinical diagnosis of VHL is determined by… read more here.
Keywords: vhl; hippel lindau; von hippel; promoter variants ... See more keywords
The utility of 68Gallium-DOTATATE PET/CT in the detection of von Hippel-Lindau disease associated tumors.
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DOI: 10.1016/j.ejrad.2018.11.023
Abstract: PURPOSE Patients with von Hippel-Lindau (VHL) disease may develop various tumors, including neuroendocrine tumors of the pancreas (PNETs) and adrenal, central nervous system and retinal hemangioblastomas, kidney tumors and more. 68Ga-DOTATATE positron emission tomography (PET)/computerized… read more here.
Keywords: dotatate pet; detection; von hippel; dotatate ... See more keywords